Mutagenetix > Incidental Mutation

Incidental Mutation 'R9417:Cdcp3'

712110

Institutional Source

Beutler Lab

Gene Symbol

Cdcp3

Ensembl Gene

ENSMUSG00000006204

Gene Name

CUB domain containing protein 3

Synonyms

5430419D17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130852218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 818 (D818G)

Ref Sequence

ENSEMBL: ENSMUSP00000061529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050586
AA Change: D818G

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: D818G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	85	105	N/A	INTRINSIC
SR	144	244	3.3e-57	SMART
CUB	272	378	1.2e-16	SMART
SR	428	528	3.9e-56	SMART
low complexity region	533	548	N/A	INTRINSIC
CUB	556	667	5.1e-38	SMART
SR	680	780	1.5e-57	SMART
Pfam:CUB	795	840	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208921
AA Change: D934G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,202 (GRCm39)	Y139H	unknown	Het
Akr1b10	T	C	6: 34,371,027 (GRCm39)	V259A	probably benign	Het
Aldh5a1	A	T	13: 25,095,673 (GRCm39)	N481K	probably damaging	Het
Ankrd26	A	T	6: 118,504,725 (GRCm39)	M728K	possibly damaging	Het
Asic1	A	G	15: 99,590,405 (GRCm39)	M52V	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cacna2d2	C	A	9: 107,392,689 (GRCm39)	Y544*	probably null	Het
Chd4	A	G	6: 125,097,688 (GRCm39)	N1403S	probably damaging	Het
Cldn4	G	T	5: 134,975,174 (GRCm39)	N142K	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dll1	T	C	17: 15,593,710 (GRCm39)	Y219C	probably damaging	Het
Dnah2	T	A	11: 69,326,990 (GRCm39)	I3539F	probably damaging	Het
Egfr	T	A	11: 16,825,067 (GRCm39)	L469*	probably null	Het
Elmo1	A	G	13: 20,756,573 (GRCm39)	N554D	possibly damaging	Het
Fam234a	A	C	17: 26,435,225 (GRCm39)	F306L	probably benign	Het
Fbl	G	A	7: 27,874,052 (GRCm39)	G45D	unknown	Het
Fbxw10	C	A	11: 62,753,522 (GRCm39)	C505*	probably null	Het
Ftcd	G	A	10: 76,417,153 (GRCm39)	G221S	probably damaging	Het
Gad1	A	G	2: 70,417,716 (GRCm39)	D305G	possibly damaging	Het
Gdpd4	A	G	7: 97,607,074 (GRCm39)	D16G	probably benign	Het
Gsdmc3	T	A	15: 63,738,663 (GRCm39)	D133V	possibly damaging	Het
Hpdl	T	C	4: 116,677,817 (GRCm39)	T215A	possibly damaging	Het
Ift56	T	C	6: 38,386,386 (GRCm39)	F369S	probably damaging	Het
Igsf10	A	T	3: 59,236,526 (GRCm39)	N1218K	possibly damaging	Het
Isg20	C	T	7: 78,569,605 (GRCm39)	P192L	probably benign	Het
Itga7	C	T	10: 128,793,543 (GRCm39)	T126M	unknown	Het
Krr1	A	G	10: 111,813,026 (GRCm39)	I134V	probably benign	Het
Krt71	T	A	15: 101,646,731 (GRCm39)	T326S	probably benign	Het
Lamb1	T	A	12: 31,337,983 (GRCm39)	V480E	probably damaging	Het
Mmp19	T	A	10: 128,630,523 (GRCm39)	L102Q	possibly damaging	Het
Mtor	T	A	4: 148,622,776 (GRCm39)	L1952*	probably null	Het
Myo15a	T	A	11: 60,378,243 (GRCm39)	V215E		Het
Nfs1	T	A	2: 155,965,851 (GRCm39)	K77*	probably null	Het
Or52s1	A	T	7: 102,861,156 (GRCm39)	I30F	possibly damaging	Het
Or9a4	T	A	6: 40,549,096 (GRCm39)	Y259N		Het
Pcdhga4	T	C	18: 37,820,560 (GRCm39)	F703S	probably damaging	Het
Pdzd7	A	G	19: 45,034,022 (GRCm39)	S21P	probably damaging	Het
Pitrm1	A	T	13: 6,617,394 (GRCm39)	I583F	possibly damaging	Het
Ppox	A	G	1: 171,107,855 (GRCm39)	L77P	unknown	Het
Ppp1r37	G	T	7: 19,269,658 (GRCm39)	R114S	probably damaging	Het
Ppp4r3b	T	C	11: 29,144,598 (GRCm39)	V316A	probably benign	Het
Ptprd	A	G	4: 75,865,335 (GRCm39)	I1214T	probably damaging	Het
Rasal3	A	G	17: 32,615,441 (GRCm39)	F466L	probably benign	Het
Ric8b	A	T	10: 84,761,447 (GRCm39)	D41V	probably benign	Het
Rin2	T	C	2: 145,686,713 (GRCm39)	S81P	probably benign	Het
Sft2d1	T	A	17: 8,542,139 (GRCm39)	C128S	probably damaging	Het
Skint1	T	C	4: 111,878,509 (GRCm39)	V147A	probably benign	Het
Slc9c1	T	C	16: 45,413,848 (GRCm39)	V992A	probably benign	Het
Sst	A	G	16: 23,708,487 (GRCm39)	S115P	probably damaging	Het
Sv2b	G	T	7: 74,769,772 (GRCm39)	S590Y	probably damaging	Het
Syne1	C	T	10: 5,082,021 (GRCm39)	V868I	probably benign	Het
Tex35	T	C	1: 156,934,789 (GRCm39)	I42V	possibly damaging	Het
Tlr2	T	C	3: 83,744,892 (GRCm39)	N397S	probably damaging	Het
Tmem202	A	G	9: 59,431,999 (GRCm39)		probably null	Het
Usp20	A	G	2: 30,873,030 (GRCm39)		probably null	Het
Usp32	C	T	11: 84,885,369 (GRCm39)	R1226Q	probably damaging	Het
Usp47	C	T	7: 111,688,801 (GRCm39)	A736V	possibly damaging	Het
Vmn2r-ps117	T	A	17: 19,044,037 (GRCm39)	L371*	probably null	Het
Wwp1	T	A	4: 19,662,215 (GRCm39)	N127Y	possibly damaging	Het
Yae1d1	A	T	13: 18,167,770 (GRCm39)	V41D	probably damaging	Het
Zbtb8b	T	C	4: 129,326,517 (GRCm39)	D216G	probably benign	Het
Zfp462	T	C	4: 55,016,988 (GRCm39)	S903P	probably benign	Het
Zranb1	G	A	7: 132,585,466 (GRCm39)	G638D	probably damaging	Het

Other mutations in Cdcp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Cdcp3	APN	7	130,839,823 (GRCm39)	splice site	probably null
IGL00848:Cdcp3	APN	7	130,848,453 (GRCm39)	missense	probably damaging	1.00
IGL00966:Cdcp3	APN	7	130,844,836 (GRCm39)	nonsense	probably null
IGL01286:Cdcp3	APN	7	130,848,432 (GRCm39)	missense	probably damaging	1.00
IGL01303:Cdcp3	APN	7	130,796,060 (GRCm39)	missense	possibly damaging	0.53
IGL01585:Cdcp3	APN	7	130,846,487 (GRCm39)	missense	probably damaging	0.97
IGL01665:Cdcp3	APN	7	130,848,386 (GRCm39)	nonsense	probably null
IGL01953:Cdcp3	APN	7	130,826,709 (GRCm39)	missense	probably benign	0.04
IGL02427:Cdcp3	APN	7	130,846,517 (GRCm39)	missense	probably damaging	0.99
IGL02508:Cdcp3	APN	7	130,824,559 (GRCm39)	missense	probably damaging	1.00
IGL02678:Cdcp3	APN	7	130,830,646 (GRCm39)	missense	probably damaging	1.00
IGL03092:Cdcp3	APN	7	130,803,527 (GRCm39)	critical splice donor site	probably null
IGL03122:Cdcp3	APN	7	130,798,243 (GRCm39)	missense	possibly damaging	0.68
IGL03343:Cdcp3	APN	7	130,848,420 (GRCm39)	missense	probably damaging	1.00
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0268:Cdcp3	UTSW	7	130,839,905 (GRCm39)	missense	probably damaging	1.00
R0383:Cdcp3	UTSW	7	130,841,268 (GRCm39)	missense	probably benign	0.05
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0974:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R1572:Cdcp3	UTSW	7	130,846,560 (GRCm39)	nonsense	probably null
R1911:Cdcp3	UTSW	7	130,839,818 (GRCm39)	missense	probably damaging	1.00
R2032:Cdcp3	UTSW	7	130,844,781 (GRCm39)	missense	probably damaging	1.00
R2097:Cdcp3	UTSW	7	130,783,693 (GRCm39)	nonsense	probably null
R2221:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2223:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2254:Cdcp3	UTSW	7	130,824,634 (GRCm39)	missense	probably damaging	1.00
R2913:Cdcp3	UTSW	7	130,783,753 (GRCm39)	missense	possibly damaging	0.90
R2991:Cdcp3	UTSW	7	130,848,429 (GRCm39)	missense	probably damaging	1.00
R3439:Cdcp3	UTSW	7	130,790,508 (GRCm39)	critical splice donor site	probably null
R4418:Cdcp3	UTSW	7	130,849,194 (GRCm39)	missense	possibly damaging	0.86
R4916:Cdcp3	UTSW	7	130,776,206 (GRCm39)	splice site	probably null
R5488:Cdcp3	UTSW	7	130,848,324 (GRCm39)	missense	probably damaging	1.00
R5594:Cdcp3	UTSW	7	130,841,252 (GRCm39)	missense	probably benign	0.12
R5897:Cdcp3	UTSW	7	130,798,280 (GRCm39)	splice site	probably null
R5898:Cdcp3	UTSW	7	130,843,696 (GRCm39)	splice site	probably null
R5940:Cdcp3	UTSW	7	130,839,992 (GRCm39)	missense	probably damaging	1.00
R6170:Cdcp3	UTSW	7	130,776,216 (GRCm39)	splice site	probably null
R6187:Cdcp3	UTSW	7	130,872,328 (GRCm39)	intron	probably benign
R6321:Cdcp3	UTSW	7	130,858,735 (GRCm39)	critical splice donor site	probably null
R6409:Cdcp3	UTSW	7	130,863,800 (GRCm39)	intron	probably benign
R6432:Cdcp3	UTSW	7	130,846,601 (GRCm39)	critical splice donor site	probably null
R6481:Cdcp3	UTSW	7	130,858,530 (GRCm39)	missense	probably benign	0.05
R6750:Cdcp3	UTSW	7	130,889,974 (GRCm39)	intron	probably benign
R6783:Cdcp3	UTSW	7	130,828,493 (GRCm39)	missense	probably damaging	0.99
R6836:Cdcp3	UTSW	7	130,798,233 (GRCm39)	missense	possibly damaging	0.84
R6925:Cdcp3	UTSW	7	130,824,436 (GRCm39)	missense	possibly damaging	0.92
R6995:Cdcp3	UTSW	7	130,824,400 (GRCm39)	missense	probably damaging	1.00
R7199:Cdcp3	UTSW	7	130,837,641 (GRCm39)	nonsense	probably null
R7205:Cdcp3	UTSW	7	130,879,352 (GRCm39)	critical splice donor site	probably null
R7340:Cdcp3	UTSW	7	130,879,344 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,873,762 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,858,458 (GRCm39)	missense	possibly damaging	0.84
R7434:Cdcp3	UTSW	7	130,881,212 (GRCm39)	missense	unknown
R7485:Cdcp3	UTSW	7	130,830,562 (GRCm39)	missense	probably damaging	0.99
R7513:Cdcp3	UTSW	7	130,873,800 (GRCm39)	missense	unknown
R7562:Cdcp3	UTSW	7	130,904,426 (GRCm39)	missense	unknown
R7623:Cdcp3	UTSW	7	130,879,295 (GRCm39)	splice site	probably null
R7782:Cdcp3	UTSW	7	130,904,466 (GRCm39)	splice site	probably null
R7879:Cdcp3	UTSW	7	130,844,871 (GRCm39)	missense	probably damaging	0.98
R7935:Cdcp3	UTSW	7	130,852,205 (GRCm39)	missense	probably damaging	0.96
R7949:Cdcp3	UTSW	7	130,895,324 (GRCm39)	splice site	probably null
R7964:Cdcp3	UTSW	7	130,899,963 (GRCm39)	missense	unknown
R7980:Cdcp3	UTSW	7	130,836,506 (GRCm39)	missense	probably damaging	0.98
R8145:Cdcp3	UTSW	7	130,898,045 (GRCm39)	missense	unknown
R8673:Cdcp3	UTSW	7	130,844,846 (GRCm39)	missense	probably damaging	0.99
R8684:Cdcp3	UTSW	7	130,837,688 (GRCm39)	nonsense	probably null
R8721:Cdcp3	UTSW	7	130,879,335 (GRCm39)	missense	unknown
R8725:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8727:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8742:Cdcp3	UTSW	7	130,783,741 (GRCm39)	missense	unknown
R8807:Cdcp3	UTSW	7	130,846,507 (GRCm39)	missense	probably damaging	0.97
R8822:Cdcp3	UTSW	7	130,843,706 (GRCm39)	critical splice acceptor site	probably null
R8861:Cdcp3	UTSW	7	130,861,690 (GRCm39)	nonsense	probably null
R8897:Cdcp3	UTSW	7	130,867,566 (GRCm39)	missense	unknown
R8900:Cdcp3	UTSW	7	130,904,197 (GRCm39)	intron	probably benign
R9214:Cdcp3	UTSW	7	130,824,481 (GRCm39)	missense	possibly damaging	0.89
R9218:Cdcp3	UTSW	7	130,863,728 (GRCm39)	missense	unknown
R9311:Cdcp3	UTSW	7	130,859,490 (GRCm39)	missense	unknown
R9323:Cdcp3	UTSW	7	130,828,401 (GRCm39)	missense	probably damaging	0.96
R9384:Cdcp3	UTSW	7	130,904,404 (GRCm39)	missense	unknown
R9387:Cdcp3	UTSW	7	130,863,620 (GRCm39)	missense	unknown
R9502:Cdcp3	UTSW	7	130,836,815 (GRCm39)	missense	possibly damaging	0.61
R9603:Cdcp3	UTSW	7	130,830,643 (GRCm39)	missense	probably damaging	0.98
R9642:Cdcp3	UTSW	7	130,848,257 (GRCm39)	missense	probably benign	0.01
Z1088:Cdcp3	UTSW	7	130,848,362 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdcp3	UTSW	7	130,867,595 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTCAAACTGCAGCTATCCC -3'
(R):5'- GCGTTAGCTCAATGAGTGGG -3'

Sequencing Primer
(F):5'- TCCCACTGTAGAATAATCTGATGC -3'
(R):5'- TAGCTCAATGAGTGGGATACTG -3'

Posted On

2022-05-16